Mutagenetix > Incidental Mutation

Incidental Mutation 'R5530:Pramel13'

433626

Institutional Source

Beutler Lab

Gene Symbol

Pramel13

Ensembl Gene

ENSMUSG00000028591

Gene Name

PRAME like 13

Synonyms

4930569K13Rik, Pramef12

MMRRC Submission

043088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144118244-144135034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144119232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 445 (M445K)

Ref Sequence

ENSEMBL: ENSMUSP00000030326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030326] [ENSMUST00000123854]

AlphaFold

Q9D2F1

Predicted Effect

probably benign
Transcript: ENSMUST00000030326
AA Change: M445K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: M445K

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	414	7e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123854

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.3%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,556 (GRCm39)		probably benign	Het
Anapc2	A	G	2: 25,174,595 (GRCm39)	K653E	possibly damaging	Het
Aplp1	T	C	7: 30,136,254 (GRCm39)	S508G	possibly damaging	Het
Bend3	T	A	10: 43,387,722 (GRCm39)	V705D	probably damaging	Het
Btaf1	C	A	19: 36,968,175 (GRCm39)	A1120E	possibly damaging	Het
Carmil3	T	C	14: 55,731,081 (GRCm39)	V116A	probably damaging	Het
Cdk5rap3	A	T	11: 96,802,459 (GRCm39)	Y238*	probably null	Het
Cep170	T	C	1: 176,597,076 (GRCm39)	H427R	probably benign	Het
Cubn	G	A	2: 13,313,334 (GRCm39)	R3079W	probably damaging	Het
Edc4	G	T	8: 106,615,886 (GRCm39)	E694*	probably null	Het
Entrep1	T	A	19: 23,952,958 (GRCm39)	T451S	probably benign	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Fbxo46	T	C	7: 18,870,727 (GRCm39)	Y449H	probably damaging	Het
Ficd	C	A	5: 113,876,986 (GRCm39)	P387Q	probably damaging	Het
Grin2b	T	C	6: 135,710,721 (GRCm39)	T942A	probably benign	Het
Hoxb1	G	C	11: 96,257,754 (GRCm39)	R228P	probably damaging	Het
Jmjd1c	T	C	10: 67,085,541 (GRCm39)	F2444L	probably damaging	Het
Kcnj2	T	C	11: 110,962,917 (GRCm39)	F103S	probably damaging	Het
Mapkbp1	A	G	2: 119,845,836 (GRCm39)	I402V	probably benign	Het
Mtcl2	T	A	2: 156,862,262 (GRCm39)	S1556C	probably damaging	Het
Mvp	A	G	7: 126,595,095 (GRCm39)	V250A	probably benign	Het
Myo1b	T	A	1: 51,836,582 (GRCm39)	N293I	probably damaging	Het
Npy5r	T	A	8: 67,133,512 (GRCm39)	Y427F	probably benign	Het
Nrdc	C	T	4: 108,904,806 (GRCm39)	T747M	probably damaging	Het
Nrxn2	C	T	19: 6,548,397 (GRCm39)	P30L	possibly damaging	Het
Nt5dc3	T	C	10: 86,656,857 (GRCm39)	F332S	probably damaging	Het
Optc	T	G	1: 133,832,828 (GRCm39)	T91P	probably benign	Het
Or14j10	A	G	17: 37,934,698 (GRCm39)	I276T	possibly damaging	Het
Or8b12c	A	G	9: 37,716,103 (GRCm39)	T299A	probably benign	Het
Otud7b	A	T	3: 96,048,799 (GRCm39)	E92V	probably damaging	Het
Pgap4	A	G	4: 49,586,226 (GRCm39)	L314P	probably benign	Het
Pla2g4d	A	G	2: 120,100,036 (GRCm39)	I677T	probably benign	Het
Pot1a	T	C	6: 25,778,893 (GRCm39)	E67G	probably damaging	Het
Ppil6	T	C	10: 41,383,494 (GRCm39)	S257P	probably damaging	Het
Ppp1r14a	T	C	7: 28,988,791 (GRCm39)	L11P	probably benign	Het
Ppp1r14bl	A	T	1: 23,141,071 (GRCm39)	I81N	probably damaging	Het
Rad21l	A	T	2: 151,499,430 (GRCm39)	I257K	probably benign	Het
Rbm11	A	G	16: 75,389,861 (GRCm39)	D9G	possibly damaging	Het
Rhbdf2	T	C	11: 116,491,488 (GRCm39)	Y586C	probably damaging	Het
Rxfp2	A	T	5: 149,980,275 (GRCm39)	I276F	probably damaging	Het
Sec14l4	A	G	11: 3,996,342 (GRCm39)	*404W	probably null	Het
Sec16a	A	G	2: 26,329,264 (GRCm39)	V917A	probably benign	Het
Sec61a2	A	T	2: 5,887,461 (GRCm39)	Y131*	probably null	Het
Sspo	A	T	6: 48,442,517 (GRCm39)	Y2004F	probably damaging	Het
Stab2	T	C	10: 86,783,026 (GRCm39)	E674G	probably benign	Het
Tmf1	A	G	6: 97,135,048 (GRCm39)	S989P	probably damaging	Het
Tshz1	T	C	18: 84,031,393 (GRCm39)	D1005G	probably damaging	Het
Wdr19	T	C	5: 65,385,562 (GRCm39)	S555P	probably benign	Het
Zdhhc24	T	A	19: 4,933,591 (GRCm39)		probably null	Het
Zfp558	A	G	9: 18,367,669 (GRCm39)	M373T	probably benign	Het

Other mutations in Pramel13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pramel13	APN	4	144,121,310 (GRCm39)	missense	possibly damaging	0.91
IGL01107:Pramel13	APN	4	144,119,664 (GRCm39)	missense	probably benign	0.00
IGL01935:Pramel13	APN	4	144,119,172 (GRCm39)	unclassified	probably benign
IGL02436:Pramel13	APN	4	144,119,539 (GRCm39)	missense	possibly damaging	0.95
IGL02491:Pramel13	APN	4	144,121,322 (GRCm39)	missense	probably damaging	1.00
IGL02744:Pramel13	APN	4	144,119,493 (GRCm39)	missense	probably damaging	1.00
IGL03338:Pramel13	APN	4	144,121,397 (GRCm39)	missense	probably benign	0.01
R0005:Pramel13	UTSW	4	144,122,423 (GRCm39)	missense	probably damaging	1.00
R1401:Pramel13	UTSW	4	144,121,658 (GRCm39)	missense	probably benign	0.00
R1611:Pramel13	UTSW	4	144,119,382 (GRCm39)	missense	probably benign	0.20
R1667:Pramel13	UTSW	4	144,119,606 (GRCm39)	nonsense	probably null
R2017:Pramel13	UTSW	4	144,121,244 (GRCm39)	missense	possibly damaging	0.49
R2290:Pramel13	UTSW	4	144,121,692 (GRCm39)	missense	probably benign	0.19
R2290:Pramel13	UTSW	4	144,121,269 (GRCm39)	missense	probably benign	0.00
R2310:Pramel13	UTSW	4	144,119,475 (GRCm39)	splice site	probably null
R2912:Pramel13	UTSW	4	144,119,304 (GRCm39)	missense	probably damaging	1.00
R2913:Pramel13	UTSW	4	144,119,304 (GRCm39)	missense	probably damaging	1.00
R4558:Pramel13	UTSW	4	144,122,542 (GRCm39)	start codon destroyed	probably null	1.00
R5162:Pramel13	UTSW	4	144,121,482 (GRCm39)	missense	probably damaging	0.96
R5521:Pramel13	UTSW	4	144,122,541 (GRCm39)	start codon destroyed	probably null	1.00
R5669:Pramel13	UTSW	4	144,122,413 (GRCm39)	missense	probably benign	0.03
R6032:Pramel13	UTSW	4	144,119,598 (GRCm39)	missense	possibly damaging	0.82
R6032:Pramel13	UTSW	4	144,119,598 (GRCm39)	missense	possibly damaging	0.82
R6314:Pramel13	UTSW	4	144,121,157 (GRCm39)	missense	probably damaging	0.98
R6322:Pramel13	UTSW	4	144,119,475 (GRCm39)	missense	probably benign	0.09
R6431:Pramel13	UTSW	4	144,119,653 (GRCm39)	missense	possibly damaging	0.83
R7729:Pramel13	UTSW	4	144,119,434 (GRCm39)	missense	probably damaging	1.00
R8324:Pramel13	UTSW	4	144,122,427 (GRCm39)	missense	probably damaging	1.00
R8778:Pramel13	UTSW	4	144,119,466 (GRCm39)	missense	probably damaging	1.00
R9711:Pramel13	UTSW	4	144,122,517 (GRCm39)	missense	probably damaging	1.00
Z1187:Pramel13	UTSW	4	144,122,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCACCCTGATATTTTCTAAAGG -3'
(R):5'- GCCAATGTGCTCAGCTTATC -3'

Sequencing Primer
(F):5'- GGATTCATCTACACCAGAGGATTCTG -3'
(R):5'- ATGTGCTCAGCTTATCATGTTCAAC -3'

Posted On

2016-10-06